Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.206767265_206767280delinsTTGCCAAAAGACTGTC | CA1323320543 | FASTKD2 | c.572_587delinsTTGCCAAAAGACTGTC (p.Ile191=) n.630_645delinsTTGCCAAAAGACTGTC | |
2 | g.206767268_206767282del | CA539388779 | FASTKD2 | c.575_589del (p.Ala192_Ser196del) n.633_647del | dbSNP gnomAD v2 gnomAD v4 |
2 | g.206767275_206767277delinsACT | CA1323320552 | FASTKD2 | c.582_584delinsACT (p.Arg194=) n.640_642delinsACT | |
2 | g.206767275_206767279delinsACTGT | CA1323320553 | FASTKD2 | c.582_586delinsACTGT (p.Arg194=) n.640_644delinsACTGT | |
2 | g.206767276_206767277del | CA1323320556 | FASTKD2 | c.583_584del (p.Leu195ValfsTer2) n.641_642del | dbSNP |
2 | g.206767279_206767282del | CA1323320555 | FASTKD2 | c.586_589del (p.Ser196MetfsTer10) n.644_647del | dbSNP |
2 | g.206767277T>A | CA350072125 | FASTKD2 | c.584T>A (p.Leu195Gln) n.642T>A | |
2 | g.206767277T>C | CA350072137 | FASTKD2 | c.584T>C (p.Leu195Pro) n.642T>C | |
2 | g.206767277T>G | CA350072133 | FASTKD2 | c.584T>G (p.Leu195Arg) n.642T>G | |
2 | g.206767278G>A | CA431114699 | FASTKD2 | c.585G>A (p.Leu195=) n.643G>A | |
2 | g.206767278G>C | CA431114700 | FASTKD2 | c.585G>C (p.Leu195=) n.643G>C | |
2 | g.206767278G>T | CA431114703 | FASTKD2 | c.585G>T (p.Leu195=) n.643G>T | |
2 | g.206767279T>A | CA350072143 | FASTKD2 | c.586T>A (p.Ser196Thr) n.644T>A | |
2 | g.206767279T>C | CA350072162 | FASTKD2 | c.586T>C (p.Ser196Pro) n.644T>C | |
2 | g.206767279T>G | CA350072160 | FASTKD2 | c.586T>G (p.Ser196Ala) n.644T>G | |
2 | g.206767280C>A | CA350072169 | FASTKD2 | c.587C>A (p.Ser196Tyr) n.645C>A | |
2 | g.206767280C= | CA1323320557 | FASTKD2 | c.587C= (p.Ser196=) n.645C= | |
2 | g.206767280C>G | CA2074906 | FASTKD2 | c.587C>G (p.Ser196Cys) n.645C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.206767280C>T | CA350072179 | FASTKD2 | c.587C>T (p.Ser196Phe) n.645C>T | |
2 | g.206767281T>A | CA431114706 | FASTKD2 | c.588T>A (p.Ser196=) n.646T>A | |
2 | g.206767281T>C | CA431114708 | FASTKD2 | c.588T>C (p.Ser196=) n.646T>C | |
2 | g.206767281T>G | CA431114707 | FASTKD2 | c.588T>G (p.Ser196=) n.646T>G | dbSNP |
2 | g.206767281T= | CA1323320558 | FASTKD2 | c.588T= (p.Ser196=) n.646T= | |
2 | g.206767282G>A | CA350072185 | FASTKD2 | c.589G>A (p.Asp197Asn) n.647G>A | gnomAD v4 COSMIC |
2 | g.206767282G>C | CA350072195 | FASTKD2 | c.589G>C (p.Asp197His) n.647G>C | |
2 | g.206767282G>T | CA350072199 | FASTKD2 | c.589G>T (p.Asp197Tyr) n.647G>T | |
2 | g.206767283A= | CA1323320559 | FASTKD2 | c.590A= (p.Asp197=) n.648A= | |
2 | g.206767283A>C | CA350072203 | FASTKD2 | c.590A>C (p.Asp197Ala) n.648A>C | |
2 | g.206767283A>G | CA350072207 | FASTKD2 | c.590A>G (p.Asp197Gly) n.648A>G | gnomAD v4 |
2 | g.206767283A>T | CA350072211 | FASTKD2 | c.590A>T (p.Asp197Val) n.648A>T | dbSNP gnomAD v4 |
2 | g.206767284T>A | CA350072217 | FASTKD2 | c.591T>A (p.Asp197Glu) n.649T>A | |
2 | g.206767284T>C | CA431114711 | FASTKD2 | c.591T>C (p.Asp197=) n.649T>C | |
2 | g.206767284T>G | CA63710116 | FASTKD2 | c.591T>G (p.Asp197Glu) n.649T>G | dbSNP |
2 | g.206767284T= | CA1323320560 | FASTKD2 | c.591T= (p.Asp197=) n.649T= | |
2 | g.206767285G>A | CA350072250 | FASTKD2 | c.592G>A (p.Asp198Asn) n.650G>A | dbSNP gnomAD v2 gnomAD v4 |
2 | g.206767285G>C | CA350072226 | FASTKD2 | c.592G>C (p.Asp198His) n.650G>C | |
2 | g.206767285G= | CA1323320561 | FASTKD2 | c.592G= (p.Asp198=) n.650G= | |
2 | g.206767285G>T | CA350072246 | FASTKD2 | c.592G>T (p.Asp198Tyr) n.650G>T | |
2 | g.206767286A>C | CA350072254 | FASTKD2 | c.593A>C (p.Asp198Ala) n.651A>C | |
2 | g.206767286A>G | CA350072259 | FASTKD2 | c.593A>G (p.Asp198Gly) n.651A>G | |
2 | g.206767286A>T | CA350072262 | FASTKD2 | c.593A>T (p.Asp198Val) n.651A>T | |
2 | g.206767287C>A | CA350072266 | FASTKD2 | c.594C>A (p.Asp198Glu) n.652C>A | |
2 | g.206767287C>G | CA350072281 | FASTKD2 | c.594C>G (p.Asp198Glu) n.652C>G | |
2 | g.206767287C>T | CA431114716 | FASTKD2 | c.594C>T (p.Asp198=) n.652C>T | |
2 | g.206767288C>A | CA350072288 | FASTKD2 | c.595C>A (p.Gln199Lys) n.653C>A | gnomAD v4 |
2 | g.206767288C>G | CA350072290 | FASTKD2 | c.595C>G (p.Gln199Glu) n.653C>G | |
2 | g.206767288C>T | CA350072291 | FASTKD2 | c.595C>T (p.Gln199Ter) n.653C>T | |
2 | g.206767289A>C | CA350072292 | FASTKD2 | c.596A>C (p.Gln199Pro) n.654A>C | |
2 | g.206767289A>G | CA350072293 | FASTKD2 | c.596A>G (p.Gln199Arg) n.654A>G | gnomAD v4 |
2 | g.206767289A>T | CA350072294 | FASTKD2 | c.596A>T (p.Gln199Leu) n.654A>T | |
2 | g.206767290G>A | CA431114721 | FASTKD2 | c.597G>A (p.Gln199=) n.655G>A | |
2 | g.206767290G>C | CA350072301 | FASTKD2 | c.597G>C (p.Gln199His) n.655G>C | |
2 | g.206767290G>T | CA350072300 | FASTKD2 | c.597G>T (p.Gln199His) n.655G>T | |
2 | g.206767291A= | CA1323320562 | FASTKD2 | c.598A= (p.Lys200=) n.656A= | |
2 | g.206767291A>C | CA350072302 | FASTKD2 | c.598A>C (p.Lys200Gln) n.656A>C | |
2 | g.206767291A>G | CA350072306 | FASTKD2 | c.598A>G (p.Lys200Glu) n.656A>G | dbSNP gnomAD v2 gnomAD v4 |
2 | g.206767291A>T | CA350072318 | FASTKD2 | c.598A>T (p.Lys200Ter) n.656A>T | |
2 | g.206767292A= | CA1323320563 | FASTKD2 | c.599A= (p.Lys200=) n.657A= | |
2 | g.206767292A>C | CA350072323 | FASTKD2 | c.599A>C (p.Lys200Thr) n.657A>C | |
2 | g.206767292A>G | CA350072331 | FASTKD2 | c.599A>G (p.Lys200Arg) n.657A>G | dbSNP gnomAD v2 gnomAD v4 |
2 | g.206767292A>T | CA350072336 | FASTKD2 | c.599A>T (p.Lys200Met) n.657A>T | |
2 | g.206767293G>A | CA431114723 | FASTKD2 | c.600G>A (p.Lys200=) n.658G>A | |
2 | g.206767293G>C | CA350072360 | FASTKD2 | c.600G>C (p.Lys200Asn) n.658G>C | |
2 | g.206767293G>T | CA350072351 | FASTKD2 | c.600G>T (p.Lys200Asn) n.658G>T | |
2 | g.206767294C>A | CA350072364 | FASTKD2 | c.601C>A (p.Arg201Ser) n.659C>A | |
2 | g.206767294C= | CA1323320564 | FASTKD2 | c.601C= (p.Arg201=) n.659C= | |
2 | g.206767294C>G | CA350072368 | FASTKD2 | c.601C>G (p.Arg201Gly) n.659C>G | |
2 | g.206767294C>T | CA2074907 | FASTKD2 | c.601C>T (p.Arg201Cys) n.659C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.206767295G>A | CA241673 | FASTKD2 | c.602G>A (p.Arg201His) n.660G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
2 | g.206767295G>C | CA350072375 | FASTKD2 | c.602G>C (p.Arg201Pro) n.660G>C | |
2 | g.206767295G= | CA1323320565 | FASTKD2 | c.602G= (p.Arg201=) n.660G= | |
2 | g.206767295G>T | CA63710130 | FASTKD2 | c.602G>T (p.Arg201Leu) n.660G>T | dbSNP gnomAD v4 |
2 | g.206767296C>A | CA431114728 | FASTKD2 | c.603C>A (p.Arg201=) n.661C>A | |
2 | g.206767296C>G | CA431114730 | FASTKD2 | c.603C>G (p.Arg201=) n.661C>G | |
2 | g.206767296C>T | CA431114732 | FASTKD2 | c.603C>T (p.Arg201=) n.661C>T | gnomAD v4 |
2 | g.206767297T>A | CA350072386 | FASTKD2 | c.604T>A (p.Phe202Ile) n.662T>A | |
2 | g.206767297T>C | CA2074908 | FASTKD2 | c.604T>C (p.Phe202Leu) n.662T>C | dbSNP ExAC gnomAD v2 |
2 | g.206767297T>G | CA350072389 | FASTKD2 | c.604T>G (p.Phe202Val) n.662T>G | |
2 | g.206767297T= | CA1323320566 | FASTKD2 | c.604T= (p.Phe202=) n.662T= | |
2 | g.206767298T>A | CA350072394 | FASTKD2 | c.605T>A (p.Phe202Tyr) n.663T>A | |
2 | g.206767298T>C | CA350072399 | FASTKD2 | c.605T>C (p.Phe202Ser) n.663T>C | |
2 | g.206767298T>G | CA350072403 | FASTKD2 | c.605T>G (p.Phe202Cys) n.663T>G | |
2 | g.206767299T>A | CA350072406 | FASTKD2 | c.606T>A (p.Phe202Leu) n.664T>A | |
2 | g.206767299T>C | CA431114735 | FASTKD2 | c.606T>C (p.Phe202=) n.664T>C | |
2 | g.206767299T>G | CA350072408 | FASTKD2 | c.606T>G (p.Phe202Leu) n.664T>G | |
2 | g.206767300G>A | CA350072414 | FASTKD2 | c.607G>A (p.Glu203Lys) n.665G>A | |
2 | g.206767300G>C | CA350072417 | FASTKD2 | c.607G>C (p.Glu203Gln) n.665G>C | dbSNP |
2 | g.206767300G>T | CA350072420 | FASTKD2 | c.607G>T (p.Glu203Ter) n.665G>T | |
2 | g.206767301A= | CA1323320567 | FASTKD2 | c.608A= (p.Glu203=) n.666A= | |
2 | g.206767301A>C | CA350072423 | FASTKD2 | c.608A>C (p.Glu203Ala) n.666A>C | |
2 | g.206767301A>G | CA350072427 | FASTKD2 | c.608A>G (p.Glu203Gly) n.666A>G | dbSNP gnomAD v2 gnomAD v4 |
2 | g.206767301A>T | CA350072431 | FASTKD2 | c.608A>T (p.Glu203Val) n.666A>T | |
2 | g.206767302A>C | CA350072436 | FASTKD2 | c.609A>C (p.Glu203Asp) n.667A>C | |
2 | g.206767302A>G | CA431114737 | FASTKD2 | c.609A>G (p.Glu203=) n.667A>G | gnomAD v4 |
2 | g.206767302A>T | CA350072439 | FASTKD2 | c.609A>T (p.Glu203Asp) n.667A>T | |
2 | g.206767303A>C | CA350072445 | FASTKD2 | c.610A>C (p.Lys204Gln) n.668A>C | |
2 | g.206767303A>G | CA350072459 | FASTKD2 | c.610A>G (p.Lys204Glu) n.668A>G | gnomAD v4 |
2 | g.206767303A>T | CA350072449 | FASTKD2 | c.610A>T (p.Lys204Ter) n.668A>T | |
2 | g.206767304A= | CA1323320568 | FASTKD2 | c.611A= (p.Lys204=) n.669A= | |
2 | g.206767304A>C | CA350072463 | FASTKD2 | c.611A>C (p.Lys204Thr) n.669A>C | |
2 | g.206767304A>G | CA350072467 | FASTKD2 | c.611A>G (p.Lys204Arg) n.669A>G | dbSNP |
2 | g.206767304A>T | CA350072468 | FASTKD2 | c.611A>T (p.Lys204Ile) n.669A>T | |
2 | g.206767305A= | CA1323320569 | FASTKD2 | c.612A= (p.Lys204=) n.670A= | |
2 | g.206767305A>C | CA350072471 | FASTKD2 | c.612A>C (p.Lys204Asn) n.670A>C | |
2 | g.206767305A>G | CA2074909 | FASTKD2 | c.612A>G (p.Lys204=) n.670A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.206767305A>T | CA350072476 | FASTKD2 | c.612A>T (p.Lys204Asn) n.670A>T | |
2 | g.206767306C>A | CA431114744 | FASTKD2 | c.613C>A (p.Arg205=) n.671C>A | gnomAD v4 |
2 | g.206767306C= | CA1323320570 | FASTKD2 | c.613C= (p.Arg205=) n.671C= | |
2 | g.206767306C>G | CA350072479 | FASTKD2 | c.613C>G (p.Arg205Gly) n.671C>G | |
2 | g.206767306C>T | CA2074910 | FASTKD2 | c.613C>T (p.Arg205Ter) n.671C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.206767307G>A | CA63710166 | FASTKD2 | c.614G>A (p.Arg205Gln) n.672G>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.206767307G>C | CA63710161 | FASTKD2 | c.614G>C (p.Arg205Pro) n.672G>C | dbSNP |
2 | g.206767307G= | CA1323320571 | FASTKD2 | c.614G= (p.Arg205=) n.672G= | |
2 | g.206767307G>T | CA350072489 | FASTKD2 | c.614G>T (p.Arg205Leu) n.672G>T | dbSNP gnomAD v2 gnomAD v4 |
2 | g.206767308A= | CA1323320572 | FASTKD2 | c.615A= (p.Arg205=) n.673A= | |
2 | g.206767308A>C | CA431114747 | FASTKD2 | c.615A>C (p.Arg205=) n.673A>C | dbSNP |
2 | g.206767308A>G | CA431114748 | FASTKD2 | c.615A>G (p.Arg205=) n.673A>G | dbSNP gnomAD v4 |
2 | g.206767308A>T | CA431114749 | FASTKD2 | c.615A>T (p.Arg205=) n.673A>T | |
2 | g.206767309C>A | CA350072497 | FASTKD2 | c.616C>A (p.Leu206Met) n.674C>A | |
2 | g.206767309C= | CA1323320573 | FASTKD2 | c.616C= (p.Leu206=) n.674C= | |
2 | g.206767309C>G | CA350072494 | FASTKD2 | c.616C>G (p.Leu206Val) n.674C>G | |
2 | g.206767309C>T | CA431114752 | FASTKD2 | c.616C>T (p.Leu206=) n.674C>T | dbSNP gnomAD v3 gnomAD v4 |
2 | g.206767310T>A | CA350072502 | FASTKD2 | c.617T>A (p.Leu206Gln) n.675T>A | |
2 | g.206767310T>C | CA350072505 | FASTKD2 | c.617T>C (p.Leu206Pro) n.675T>C | |
2 | g.206767310T>G | CA350072509 | FASTKD2 | c.617T>G (p.Leu206Arg) n.675T>G | |
2 | g.206767311G>A | CA431114754 | FASTKD2 | c.618G>A (p.Leu206=) n.676G>A | |
2 | g.206767311G>C | CA431114757 | FASTKD2 | c.618G>C (p.Leu206=) n.676G>C | |
2 | g.206767311G>T | CA431114756 | FASTKD2 | c.618G>T (p.Leu206=) n.676G>T | |
2 | g.206767312A>C | CA350072512 | FASTKD2 | c.619A>C (p.Met207Leu) n.677A>C | |
2 | g.206767312A>G | CA350072522 | FASTKD2 | c.619A>G (p.Met207Val) n.677A>G | gnomAD v4 |
2 | g.206767312A>T | CA350072525 | FASTKD2 | c.619A>T (p.Met207Leu) n.677A>T | |
2 | g.206767313T>A | CA350072528 | FASTKD2 | c.620T>A (p.Met207Lys) n.678T>A | |
2 | g.206767313T>C | CA350072538 | FASTKD2 | c.620T>C (p.Met207Thr) n.678T>C | gnomAD v4 |
2 | g.206767313T>G | CA350072541 | FASTKD2 | c.620T>G (p.Met207Arg) n.678T>G | |
2 | g.206767314G>A | CA350072544 | FASTKD2 | c.621G>A (p.Met207Ile) n.679G>A | |
2 | g.206767314G>C | CA350072549 | FASTKD2 | c.621G>C (p.Met207Ile) n.679G>C | |
2 | g.206767314G>T | CA350072552 | FASTKD2 | c.621G>T (p.Met207Ile) n.679G>T | |
2 | g.206767315T>A | CA350072559 | FASTKD2 | c.622T>A (p.Phe208Ile) n.680T>A | |
2 | g.206767315T>C | CA350072562 | FASTKD2 | c.622T>C (p.Phe208Leu) n.680T>C | |
2 | g.206767315T>G | CA350072557 | FASTKD2 | c.622T>G (p.Phe208Val) n.680T>G | |
2 | g.206767316T>A | CA350072566 | FASTKD2 | c.623T>A (p.Phe208Tyr) n.681T>A | |
2 | g.206767316T>C | CA350072569 | FASTKD2 | c.623T>C (p.Phe208Ser) n.681T>C | |
2 | g.206767316T>G | CA350072573 | FASTKD2 | c.623T>G (p.Phe208Cys) n.681T>G | gnomAD v4 |
2 | g.206767317T>A | CA350072578 | FASTKD2 | c.624T>A (p.Phe208Leu) n.682T>A | |
2 | g.206767317T>C | CA431114765 | FASTKD2 | c.624T>C (p.Phe208=) n.682T>C | |
2 | g.206767317T>G | CA350072580 | FASTKD2 | c.624T>G (p.Phe208Leu) n.682T>G | |
2 | g.206767318A= | CA1323320574 | FASTKD2 | c.625A= (p.Ser209=) n.683A= | |
2 | g.206767318A>C | CA2074911 | FASTKD2 | c.625A>C (p.Ser209Arg) n.683A>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.206767318A>G | CA350072587 | FASTKD2 | c.625A>G (p.Ser209Gly) n.683A>G | dbSNP gnomAD v2 |
2 | g.206767318A>T | CA350072588 | FASTKD2 | c.625A>T (p.Ser209Cys) n.683A>T | |
2 | g.206767318_206767320del | CA2662829152 | FASTKD2 | c.625_627del (p.Ser209del) n.683_685del | gnomAD v4 |
2 | g.206767319G>A | CA350072589 | FASTKD2 | c.626G>A (p.Ser209Asn) n.684G>A | |
2 | g.206767319G>C | CA350072590 | FASTKD2 | c.626G>C (p.Ser209Thr) n.684G>C | |
2 | g.206767319G>T | CA350072591 | FASTKD2 | c.626G>T (p.Ser209Ile) n.684G>T | |
2 | g.206767320C>A | CA350072594 | FASTKD2 | c.627C>A (p.Ser209Arg) n.685C>A | |
2 | g.206767320C>G | CA350072595 | FASTKD2 | c.627C>G (p.Ser209Arg) n.685C>G | |
2 | g.206767320C>T | CA431114768 | FASTKD2 | c.627C>T (p.Ser209=) n.685C>T | COSMIC |
2 | g.206767321C>A | CA350072610 | FASTKD2 | c.628C>A (p.His210Asn) n.686C>A | |
2 | g.206767321C= | CA1323320575 | FASTKD2 | c.628C= (p.His210=) n.686C= | |
2 | g.206767321C>G | CA350072600 | FASTKD2 | c.628C>G (p.His210Asp) n.686C>G | |
2 | g.206767321C>T | CA350072598 | FASTKD2 | c.628C>T (p.His210Tyr) n.686C>T | dbSNP gnomAD v2 |
2 | g.206767322A>C | CA350072614 | FASTKD2 | c.629A>C (p.His210Pro) n.687A>C | |
2 | g.206767322A>G | CA350072619 | FASTKD2 | c.629A>G (p.His210Arg) n.687A>G | |
2 | g.206767322A>T | CA350072622 | FASTKD2 | c.629A>T (p.His210Leu) n.687A>T | |
2 | g.206767323C>A | CA350072626 | FASTKD2 | c.630C>A (p.His210Gln) n.688C>A | dbSNP gnomAD v4 |
2 | g.206767323C= | CA1323320576 | FASTKD2 | c.630C= (p.His210=) n.688C= | |
2 | g.206767323C>G | CA350072629 | FASTKD2 | c.630C>G (p.His210Gln) n.688C>G | |
2 | g.206767323C>T | CA2074912 | FASTKD2 | c.630C>T (p.His210=) n.688C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.206767323_206767336del | CA2662829153 | FASTKD2 | c.630_643del (p.His210GlnfsTer4) n.688_701del | gnomAD v4 |
2 | g.206767324C>A | CA350072637 | FASTKD2 | c.631C>A (p.Pro211Thr) n.689C>A | |
2 | g.206767324C= | CA1323320578 | FASTKD2 | c.631C= (p.Pro211=) n.689C= | |
2 | g.206767324C>G | CA63710196 | FASTKD2 | c.631C>G (p.Pro211Ala) n.689C>G | dbSNP gnomAD v3 gnomAD v4 |
2 | g.206767324C>T | CA350072642 | FASTKD2 | c.631C>T (p.Pro211Ser) n.689C>T | gnomAD v4 |
2 | g.206767324_206767340delinsCCTGCATTTAATCAGCT | CA1323320577 | FASTKD2 | c.631_647delinsCCTGCATTTAATCAGCT (p.Pro211=) n.689_705delinsCCTGCATTTAATCAGCT | |
2 | g.206767325C>A | CA350072644 | FASTKD2 | c.632C>A (p.Pro211His) n.690C>A | |
2 | g.206767325C>G | CA350072654 | FASTKD2 | c.632C>G (p.Pro211Arg) n.690C>G | gnomAD v4 |
2 | g.206767325C>T | CA350072656 | FASTKD2 | c.632C>T (p.Pro211Leu) n.690C>T | |
2 | g.206767328_206767343del | CA763821304 | FASTKD2 | c.635_650del (p.Ala212ValfsTer4) n.693_708del | dbSNP gnomAD v4 |
2 | g.206767326T>A | CA431114775 | FASTKD2 | c.633T>A (p.Pro211=) n.691T>A | |
2 | g.206767326T>C | CA431114776 | FASTKD2 | c.633T>C (p.Pro211=) n.691T>C | |
2 | g.206767326T>G | CA431114777 | FASTKD2 | c.633T>G (p.Pro211=) n.691T>G | |
2 | g.206767327G>A | CA350072667 | FASTKD2 | c.634G>A (p.Ala212Thr) n.692G>A | gnomAD v4 |
2 | g.206767327G>C | CA350072663 | FASTKD2 | c.634G>C (p.Ala212Pro) n.692G>C | |
2 | g.206767327G>T | CA350072660 | FASTKD2 | c.634G>T (p.Ala212Ser) n.692G>T | |
2 | g.206767328C>A | CA350072682 | FASTKD2 | c.635C>A (p.Ala212Glu) n.693C>A | |
2 | g.206767328C= | CA1323320579 | FASTKD2 | c.635C= (p.Ala212=) n.693C= | |
2 | g.206767328C>G | CA350072688 | FASTKD2 | c.635C>G (p.Ala212Gly) n.693C>G | |
2 | g.206767328C>T | CA2074913 | FASTKD2 | c.635C>T (p.Ala212Val) n.693C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.206767329A= | CA1323320580 | FASTKD2 | c.636A= (p.Ala212=) n.694A= | |
2 | g.206767329A>C | CA2074915 | FASTKD2 | c.636A>C (p.Ala212=) n.694A>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.206767329A>G | CA2074914 | FASTKD2 | c.636A>G (p.Ala212=) n.694A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.206767329A>T | CA431114784 | FASTKD2 | c.636A>T (p.Ala212=) n.694A>T | |
2 | g.206767330T>A | CA350072701 | FASTKD2 | c.637T>A (p.Phe213Ile) n.695T>A | |
2 | g.206767330T>C | CA350072712 | FASTKD2 | c.637T>C (p.Phe213Leu) n.695T>C | |
2 | g.206767330T>G | CA350072708 | FASTKD2 | c.637T>G (p.Phe213Val) n.695T>G | |
2 | g.206767332del | CA2577223920 | FASTKD2 | c.639del (p.Phe213LeufsTer8) n.697del | |
2 | g.206767331T>A | CA350072716 | FASTKD2 | c.638T>A (p.Phe213Tyr) n.696T>A | |
2 | g.206767331T>C | CA350072718 | FASTKD2 | c.638T>C (p.Phe213Ser) n.696T>C | |
2 | g.206767331T>G | CA350072717 | FASTKD2 | c.638T>G (p.Phe213Cys) n.696T>G | |
2 | g.206767332T>A | CA350072719 | FASTKD2 | c.639T>A (p.Phe213Leu) n.697T>A | |
2 | g.206767332T>C | CA431114790 | FASTKD2 | c.639T>C (p.Phe213=) n.697T>C | |
2 | g.206767332T>G | CA350072722 | FASTKD2 | c.639T>G (p.Phe213Leu) n.697T>G | |
2 | g.206767333A>C | CA350072724 | FASTKD2 | c.640A>C (p.Asn214His) n.698A>C | gnomAD v4 |
2 | g.206767333A>G | CA350072727 | FASTKD2 | c.640A>G (p.Asn214Asp) n.698A>G | |
2 | g.206767333A>T | CA350072734 | FASTKD2 | c.640A>T (p.Asn214Tyr) n.698A>T | |
2 | g.206767334_206767337del | CA2662829154 | FASTKD2 | c.641_644del (p.Asn214SerfsTer6) n.699_702del | gnomAD v4 |
2 | g.206767334A= | CA1323320581 | FASTKD2 | c.641A= (p.Asn214=) n.699A= | |
2 | g.206767334A>C | CA350072742 | FASTKD2 | c.641A>C (p.Asn214Thr) n.699A>C | |
2 | g.206767334A>G | CA2074916 | FASTKD2 | c.641A>G (p.Asn214Ser) n.699A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.206767334A>T | CA350072746 | FASTKD2 | c.641A>T (p.Asn214Ile) n.699A>T | |
2 | g.206767335T>A | CA350072747 | FASTKD2 | c.642T>A (p.Asn214Lys) n.700T>A | |
2 | g.206767335T>C | CA431114798 | FASTKD2 | c.642T>C (p.Asn214=) n.700T>C | gnomAD v4 |
2 | g.206767335T>G | CA350072748 | FASTKD2 | c.642T>G (p.Asn214Lys) n.700T>G | |
2 | g.206767336C>A | CA350072755 | FASTKD2 | c.643C>A (p.Gln215Lys) n.701C>A | |
2 | g.206767336C>G | CA350072751 | FASTKD2 | c.643C>G (p.Gln215Glu) n.701C>G | |
2 | g.206767336C>T | CA350072749 | FASTKD2 | c.643C>T (p.Gln215Ter) n.701C>T | gnomAD v4 |
2 | g.206767337A>C | CA350072756 | FASTKD2 | c.644A>C (p.Gln215Pro) n.702A>C | ClinVar |
2 | g.206767337A>G | CA350072757 | FASTKD2 | c.644A>G (p.Gln215Arg) n.702A>G | gnomAD v4 |
2 | g.206767337A>T | CA350072758 | FASTKD2 | c.644A>T (p.Gln215Leu) n.702A>T | |
2 | g.206767338G>A | CA2074917 | FASTKD2 | c.645G>A (p.Gln215=) n.703G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.206767338G>C | CA350072761 | FASTKD2 | c.645G>C (p.Gln215His) n.703G>C | |
2 | g.206767338G= | CA1323320582 | FASTKD2 | c.645G= (p.Gln215=) n.703G= | |
2 | g.206767338G>T | CA350072764 | FASTKD2 | c.645G>T (p.Gln215His) n.703G>T | |
2 | g.206767339C>A | CA350072767 | FASTKD2 | c.646C>A (p.Leu216Ile) n.704C>A | |
2 | g.206767339C>G | CA350072770 | FASTKD2 | c.646C>G (p.Leu216Val) n.704C>G | COSMIC |
2 | g.206767339C>T | CA350072776 | FASTKD2 | c.646C>T (p.Leu216Phe) n.704C>T | gnomAD v3 gnomAD v4 |
2 | g.206767339_206767349del | CA2662829155 | FASTKD2 | c.646_656del (p.Leu216TyrfsTer11) n.704_714del | gnomAD v4 |
2 | g.206767340T>A | CA350072781 | FASTKD2 | c.647T>A (p.Leu216His) n.705T>A | |
2 | g.206767340T>C | CA350072784 | FASTKD2 | c.647T>C (p.Leu216Pro) n.705T>C | gnomAD v4 |
2 | g.206767340T>G | CA350072786 | FASTKD2 | c.647T>G (p.Leu216Arg) n.705T>G | |
2 | g.206767341C>A | CA431114810 | FASTKD2 | c.648C>A (p.Leu216=) n.706C>A | |
2 | g.206767341C= | CA1323320583 | FASTKD2 | c.648C= (p.Leu216=) n.706C= | |
2 | g.206767341C>G | CA431114811 | FASTKD2 | c.648C>G (p.Leu216=) n.706C>G | dbSNP gnomAD v3 gnomAD v4 |
2 | g.206767341C>T | CA2074918 | FASTKD2 | c.648C>T (p.Leu216=) n.706C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.206767342T>A | CA350072808 | FASTKD2 | c.649T>A (p.Cys217Ser) n.707T>A | |
2 | g.206767342T>C | CA350072799 | FASTKD2 | c.649T>C (p.Cys217Arg) n.707T>C | |
2 | g.206767342T>G | CA350072805 | FASTKD2 | c.649T>G (p.Cys217Gly) n.707T>G | |
2 | g.206767343G>A | CA350072812 | FASTKD2 | c.650G>A (p.Cys217Tyr) n.708G>A | |
2 | g.206767343G>C | CA350072813 | FASTKD2 | c.650G>C (p.Cys217Ser) n.708G>C | |
2 | g.206767343G>T | CA350072818 | FASTKD2 | c.650G>T (p.Cys217Phe) n.708G>T | |
2 | g.206767344T>A | CA350072820 | FASTKD2 | c.651T>A (p.Cys217Ter) n.709T>A | gnomAD v4 |
2 | g.206767344T>C | CA431114814 | FASTKD2 | c.651T>C (p.Cys217=) n.709T>C | |
2 | g.206767344T>G | CA350072822 | FASTKD2 | c.651T>G (p.Cys217Trp) n.709T>G | |
2 | g.206767345G>A | CA350072826 | FASTKD2 | c.652G>A (p.Glu218Lys) n.710G>A | |
2 | g.206767345G>C | CA350072828 | FASTKD2 | c.652G>C (p.Glu218Gln) n.710G>C | |
2 | g.206767345G>T | CA350072835 | FASTKD2 | c.652G>T (p.Glu218Ter) n.710G>T | |
2 | g.206767346A= | CA1323320584 | FASTKD2 | c.653A= (p.Glu218=) n.711A= | |
2 | g.206767346A>C | CA350072838 | FASTKD2 | c.653A>C (p.Glu218Ala) n.711A>C | |
2 | g.206767346A>G | CA350072842 | FASTKD2 | c.653A>G (p.Glu218Gly) n.711A>G | dbSNP gnomAD v2 gnomAD v4 |
2 | g.206767346A>T | CA350072843 | FASTKD2 | c.653A>T (p.Glu218Val) n.711A>T | |
2 | g.206767347A>C | CA350072844 | FASTKD2 | c.654A>C (p.Glu218Asp) n.712A>C | |
2 | g.206767347A>G | CA431114819 | FASTKD2 | c.654A>G (p.Glu218=) n.712A>G | |
2 | g.206767347A>T | CA350072845 | FASTKD2 | c.654A>T (p.Glu218Asp) n.712A>T | |
2 | g.206767348C>A | CA350072848 | FASTKD2 | c.655C>A (p.His219Asn) n.713C>A | |
2 | g.206767348C>G | CA350072850 | FASTKD2 | c.655C>G (p.His219Asp) n.713C>G | |
2 | g.206767348C>T | CA350072853 | FASTKD2 | c.655C>T (p.His219Tyr) n.713C>T | |
2 | g.206767349A>C | CA350072860 | FASTKD2 | c.656A>C (p.His219Pro) n.714A>C | |
2 | g.206767349A>G | CA350072862 | FASTKD2 | c.656A>G (p.His219Arg) n.714A>G | |
2 | g.206767349A>T | CA350072875 | FASTKD2 | c.656A>T (p.His219Leu) n.714A>T | |
2 | g.206767350T>A | CA350072880 | FASTKD2 | c.657T>A (p.His219Gln) n.715T>A | |
2 | g.206767350T>C | CA431114823 | FASTKD2 | c.657T>C (p.His219=) n.715T>C | |
2 | g.206767350T>G | CA350072882 | FASTKD2 | c.657T>G (p.His219Gln) n.715T>G | |
2 | g.206767351A>C | CA350072887 | FASTKD2 | c.658A>C (p.Met220Leu) n.716A>C | |
2 | g.206767351A>G | CA350072891 | FASTKD2 | c.658A>G (p.Met220Val) n.716A>G | |
2 | g.206767351A>T | CA350072894 | FASTKD2 | c.658A>T (p.Met220Leu) n.716A>T | |
2 | g.206767355_206767357del | CA431114826 | FASTKD2 | c.662_664del (p.Met221del) n.720_722del | |
2 | g.206767352T>A | CA350072903 | FASTKD2 | c.659T>A (p.Met220Lys) n.717T>A | gnomAD v4 |
2 | g.206767352T>C | CA2074919 | FASTKD2 | c.659T>C (p.Met220Thr) n.717T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.206767352T>G | CA350072899 | FASTKD2 | c.659T>G (p.Met220Arg) n.717T>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.206767352T= | CA1323320585 | FASTKD2 | c.659T= (p.Met220=) n.717T= | |
2 | g.206767352_206767355del | CA2662829156 | FASTKD2 | c.659_662del (p.Met220ArgfsTer19) n.717_720del | gnomAD v4 |
2 | g.206767353G>A | CA350072905 | FASTKD2 | c.660G>A (p.Met220Ile) n.718G>A | |
2 | g.206767353G>C | CA350072911 | FASTKD2 | c.660G>C (p.Met220Ile) n.718G>C | |
2 | g.206767353G>T | CA350072908 | FASTKD2 | c.660G>T (p.Met220Ile) n.718G>T | |
2 | g.206767354A>C | CA350072915 | FASTKD2 | c.661A>C (p.Met221Leu) n.719A>C | |
2 | g.206767354A>G | CA350072919 | FASTKD2 | c.661A>G (p.Met221Val) n.719A>G | |
2 | g.206767354A>T | CA350072922 | FASTKD2 | c.661A>T (p.Met221Leu) n.719A>T | |
2 | g.206767355T>A | CA350072926 | FASTKD2 | c.662T>A (p.Met221Lys) n.720T>A | |
2 | g.206767355T>C | CA350072929 | FASTKD2 | c.662T>C (p.Met221Thr) n.720T>C | |
2 | g.206767355T>G | CA350072940 | FASTKD2 | c.662T>G (p.Met221Arg) n.720T>G | |
2 | g.206767356G>A | CA350072943 | FASTKD2 | c.663G>A (p.Met221Ile) n.721G>A | |
2 | g.206767356G>C | CA350072947 | FASTKD2 | c.663G>C (p.Met221Ile) n.721G>C | |
2 | g.206767356G>T | CA350072949 | FASTKD2 | c.663G>T (p.Met221Ile) n.721G>T | |
2 | g.206767357A= | CA1323320586 | FASTKD2 | c.664A= (p.Arg222=) n.722A= | |
2 | g.206767357A>C | CA2074920 | FASTKD2 | c.664A>C (p.Arg222=) n.722A>C | dbSNP ExAC gnomAD v2 |
2 | g.206767357A>G | CA350072954 | FASTKD2 | c.664A>G (p.Arg222Gly) n.722A>G | gnomAD v4 COSMIC |
2 | g.206767357A>T | CA350072956 | FASTKD2 | c.664A>T (p.Arg222Ter) n.722A>T | |
2 | g.206767358G>A | CA350072963 | FASTKD2 | c.665G>A (p.Arg222Lys) n.723G>A | |
2 | g.206767358G>C | CA350072959 | FASTKD2 | c.665G>C (p.Arg222Thr) n.723G>C | |
2 | g.206767358G>T | CA350072961 | FASTKD2 | c.665G>T (p.Arg222Ile) n.723G>T | |
2 | g.206767359A>C | CA350072966 | FASTKD2 | c.666A>C (p.Arg222Ser) n.724A>C | |
2 | g.206767359A>G | CA431114834 | FASTKD2 | c.666A>G (p.Arg222=) n.724A>G | |
2 | g.206767359A>T | CA350072969 | FASTKD2 | c.666A>T (p.Arg222Ser) n.724A>T | |
2 | g.206767360G>A | CA350072974 | FASTKD2 | c.667G>A (p.Glu223Lys) n.725G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.206767360G>C | CA350072976 | FASTKD2 | c.667G>C (p.Glu223Gln) n.725G>C | |
2 | g.206767360G= | CA1323320587 | FASTKD2 | c.667G= (p.Glu223=) n.725G= | |
2 | g.206767360G>T | CA350072979 | FASTKD2 | c.667G>T (p.Glu223Ter) n.725G>T | |
2 | g.206767361A>C | CA350072982 | FASTKD2 | c.668A>C (p.Glu223Ala) n.726A>C | |
2 | g.206767361A>G | CA350072984 | FASTKD2 | c.668A>G (p.Glu223Gly) n.726A>G | gnomAD v4 |
2 | g.206767361A>T | CA350072987 | FASTKD2 | c.668A>T (p.Glu223Val) n.726A>T | |
2 | g.206767361_206767367del | CA2662829157 | FASTKD2 | c.668_674del (p.Glu223GlyfsTer15) n.726_732del | gnomAD v4 |
2 | g.206767362A>C | CA350072989 | FASTKD2 | c.669A>C (p.Glu223Asp) n.727A>C | |
2 | g.206767362A>G | CA431114839 | FASTKD2 | c.669A>G (p.Glu223=) n.727A>G | |
2 | g.206767362A>T | CA350072993 | FASTKD2 | c.669A>T (p.Glu223Asp) n.727A>T | |
2 | g.206767363G>A | CA350073001 | FASTKD2 | c.670G>A (p.Ala224Thr) n.728G>A | dbSNP gnomAD v3 gnomAD v4 |
2 | g.206767363G>C | CA350072999 | FASTKD2 | c.670G>C (p.Ala224Pro) n.728G>C | |
2 | g.206767363G= | CA1323320588 | FASTKD2 | c.670G= (p.Ala224=) n.728G= | |
2 | g.206767363G>T | CA350072996 | FASTKD2 | c.670G>T (p.Ala224Ser) n.728G>T | |
2 | g.206767364C>A | CA350073004 | FASTKD2 | c.671C>A (p.Ala224Asp) n.729C>A | |
2 | g.206767364C= | CA1323320589 | FASTKD2 | c.671C= (p.Ala224=) n.729C= | |
2 | g.206767364C>G | CA350073006 | FASTKD2 | c.671C>G (p.Ala224Gly) n.729C>G | |
2 | g.206767364C>T | CA2074921 | FASTKD2 | c.671C>T (p.Ala224Val) n.729C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.206767365C>A | CA431114844 | FASTKD2 | c.672C>A (p.Ala224=) n.730C>A | |
2 | g.206767365C= | CA1323320590 | FASTKD2 | c.672C= (p.Ala224=) n.730C= | |
2 | g.206767365C>G | CA431114845 | FASTKD2 | c.672C>G (p.Ala224=) n.730C>G | |
2 | g.206767365C>T | CA2074922 | FASTKD2 | c.672C>T (p.Ala224=) n.730C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.206767366A>C | CA350073013 | FASTKD2 | c.673A>C (p.Lys225Gln) n.731A>C | |
2 | g.206767366A>G | CA350073016 | FASTKD2 | c.673A>G (p.Lys225Glu) n.731A>G | ClinVar |
2 | g.206767366A>T | CA350073021 | FASTKD2 | c.673A>T (p.Lys225Ter) n.731A>T | |
2 | g.206767367A>C | CA350073025 | FASTKD2 | c.674A>C (p.Lys225Thr) n.732A>C | |
2 | g.206767367A>G | CA350073029 | FASTKD2 | c.674A>G (p.Lys225Arg) n.732A>G | |
2 | g.206767367A>T | CA350073032 | FASTKD2 | c.674A>T (p.Lys225Met) n.732A>T | |
2 | g.206767368G>A | CA431114852 | FASTKD2 | c.675G>A (p.Lys225=) n.733G>A | dbSNP gnomAD v3 gnomAD v4 |
2 | g.206767368G>C | CA350073035 | FASTKD2 | c.675G>C (p.Lys225Asn) n.733G>C | |
2 | g.206767368G= | CA1323324734 | FASTKD2 | c.675G= (p.Lys225=) n.733G= | |
2 | g.206767368G>T | CA350073037 | FASTKD2 | c.675G>T (p.Lys225Asn) n.733G>T | |
2 | g.206767369A>C | CA350073048 | FASTKD2 | c.676A>C (p.Ile226Leu) n.734A>C | |
2 | g.206767369A>G | CA350073044 | FASTKD2 | c.676A>G (p.Ile226Val) n.734A>G | gnomAD v4 |
2 | g.206767369A>T | CA350073041 | FASTKD2 | c.676A>T (p.Ile226Phe) n.734A>T | |
2 | g.206767370T>A | CA350073051 | FASTKD2 | c.677T>A (p.Ile226Asn) n.735T>A | |
2 | g.206767370T>C | CA350073056 | FASTKD2 | c.677T>C (p.Ile226Thr) n.735T>C | |
2 | g.206767370T>G | CA350073059 | FASTKD2 | c.677T>G (p.Ile226Ser) n.735T>G | |
2 | g.206767371C>A | CA431114866 | FASTKD2 | c.678C>A (p.Ile226=) n.736C>A | |
2 | g.206767371C>G | CA350073061 | FASTKD2 | c.678C>G (p.Ile226Met) n.736C>G | |
2 | g.206767371C>T | CA431114867 | FASTKD2 | c.678C>T (p.Ile226=) n.736C>T | gnomAD v4 |
2 | g.206767372A>C | CA350073064 | FASTKD2 | c.679A>C (p.Met227Leu) n.737A>C | |
2 | g.206767372A>G | CA350073066 | FASTKD2 | c.679A>G (p.Met227Val) n.737A>G | |
2 | g.206767372A>T | CA350073070 | FASTKD2 | c.679A>T (p.Met227Leu) n.737A>T | |
2 | g.206767373T>A | CA350073072 | FASTKD2 | c.680T>A (p.Met227Lys) n.738T>A | |
2 | g.206767373T>C | CA350073074 | FASTKD2 | c.680T>C (p.Met227Thr) n.738T>C | |
2 | g.206767373T>G | CA350073075 | FASTKD2 | c.680T>G (p.Met227Arg) n.738T>G | |
2 | g.206767374G>A | CA350073076 | FASTKD2 | c.681G>A (p.Met227Ile) n.739G>A | |
2 | g.206767374G>C | CA350073078 | FASTKD2 | c.681G>C (p.Met227Ile) n.739G>C | |
2 | g.206767374G>T | CA350073080 | FASTKD2 | c.681G>T (p.Met227Ile) n.739G>T | |
2 | g.206767375C>A | CA350073084 | FASTKD2 | c.682C>A (p.Gln228Lys) n.740C>A | |
2 | g.206767375C= | CA1323324748 | FASTKD2 | c.682C= (p.Gln228=) n.740C= | |
2 | g.206767375C>G | CA350073087 | FASTKD2 | c.682C>G (p.Gln228Glu) n.740C>G | |
2 | g.206767375C>T | CA323091 | FASTKD2 | c.682C>T (p.Gln228Ter) n.740C>T | ClinVar dbSNP |
2 | g.206767376A= | CA1323324770 | FASTKD2 | c.683A= (p.Gln228=) n.741A= | |
2 | g.206767376A>C | CA63710266 | FASTKD2 | c.683A>C (p.Gln228Pro) n.741A>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.206767376A>G | CA350073090 | FASTKD2 | c.683A>G (p.Gln228Arg) n.741A>G | gnomAD v4 |
2 | g.206767376A>T | CA350073093 | FASTKD2 | c.683A>T (p.Gln228Leu) n.741A>T | |
2 | g.206767377G>A | CA2074924 | FASTKD2 | c.684G>A (p.Gln228=) n.742G>A | dbSNP ExAC gnomAD v2 |
2 | g.206767377G>C | CA2074923 | FASTKD2 | c.684G>C (p.Gln228His) n.742G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.206767377G= | CA1323324793 | FASTKD2 | c.684G= (p.Gln228=) n.742G= | |
2 | g.206767377G>T | CA350073098 | FASTKD2 | c.684G>T (p.Gln228His) n.742G>T |